TSES
MCID: GNT033
MIFTS: 29

Genetic Prion Diseases (TSES) malady

Summaries for Genetic Prion Diseases

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19GeneReviews, 32MalaCards
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MalaCards: Genetic Prion Diseases, also known as transmissible spongiform encephalopathies, is related to prion disease and gerstmann-straussler-scheinker disease. An important gene associated with Genetic Prion Diseases is PRNP (prion protein). The compounds guanidine hydrochloride and formate have been mentioned in the context of this disorder.

GeneReviews summary for prion

Aliases & Classifications for Genetic Prion Diseases

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19GeneReviews, 20GeneTests, 22GTR
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Aliases & Descriptions:

genetic prion diseases 19 20 22
transmissible spongiform encephalopathies 19
tses 19


Related Diseases for Genetic Prion Diseases

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Genetic Prion Diseases:



Diseases related to genetic prion diseases

Clinical Features for Genetic Prion Diseases

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Drugs & Therapeutics for Genetic Prion Diseases

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Genetic Prion Diseases

Drug clinical trials:

Search ClinicalTrials for Genetic Prion Diseases

Search NIH Clinical Center for Genetic Prion Diseases

Search CenterWatch for Genetic Prion Diseases

Genetic Tests for Genetic Prion Diseases

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20GeneTests, 22GTR
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Genetic tests related to Genetic Prion Diseases:

id Genetic test Affiliating Genes
1 Genetic Prion Diseases20 22 PRNP

Anatomical Context for Genetic Prion Diseases

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Animal Models for Genetic Prion Diseases or affiliated genes

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Publications for Genetic Prion Diseases

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50PubMed
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Articles related to Genetic Prion Diseases:

(show all 34)
idTitleAuthorsYear
1
PrP(ST), a soluble, protease resistant and truncated PrP form features in the pathogenesis of a genetic prion disease. (23922744)
2013
2
L-Type Bovine Spongiform Encephalopathy in Genetically Susceptible and Resistant Sheep: Changes in Prion Strain or Phenotypic Plasticity of the Disease-Associated Prion Protein? (24218507)
2013
3
Epitope scanning indicates structural differences in brain-derived monomeric and aggregated mutant prion proteins related to genetic prion diseases. (23808898)
2013
4
Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. (23555862)
2013
5
Genetic depletion of complement receptors CD21/35 prevents terminal prion disease in a mouse model of chronic wasting disease. (23002439)
2012
6
Genetic predictions of prion disease susceptibility in carnivore species based on variability of the prion gene coding region. (23236380)
2012
7
Copper is toxic to PrP-ablated mice and exacerbates disease in a mouse model of E200K genetic prion disease. (22198568)
2012
8
Activation of the macroautophagic system in scrapie-infected experimental animals and human genetic prion diseases. (22874564)
2012
9
Intraneuronal immunoreactivity for the prion protein distinguishes a subset of E200K genetic from sporadic Creutzfeldt-Jakob Disease. (22318125)
2012
10
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. (22210626)
2012
11
Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. (21232818)
2011
12
Fatal prion disease in a mouse model of genetic E200K Creutzfeldt-Jakob disease. (22072968)
2011
13
Genetic prion disease-associated myelodysplasia and SIADH in siblings. (22097952)
2011
14
Genetics of prion disease. (21528440)
2011
15
Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity. (21293298)
2011
16
Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors. (21616973)
2011
17
Phenotypic heterogeneity and genetic modifiers in prion disease caused by a Pro102Leu mutation in the PRNP gene. (19092795)
2009
18
ApoE distribution and family history in genetic prion diseases in Germany. (18157657)
2008
19
Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series. (18757886)
2008
20
Genetic background of human prion diseases]. (18198790)
2007
21
Prion disease genetics. (16391566)
2006
22
Genetic susceptibility to prion disease: new phenotypes? (15645593)
2005
23
Genetic prion disease: the EUROCJD experience. (16187142)
2005
24
Increased incidence of genetic human prion disease in Hungary. (16301504)
2005
25
Clinical and genetic features of human prion diseases in Catalonia: 1993-2002. (15469448)
2004
26
Examination of the human prion protein-like gene doppel for genetic susceptibility to sporadic and variant Creutzfeldt-Jakob disease. (10936691)
2000
27
Molecular genetics of human prion diseases in Germany. (10987652)
1999
28
Transmissible and genetic prion diseases share a common pathway of neurodegeneration. (10617204)
1999
29
Molecular genetics of human prion diseases. (7913754)
1994
30
Molecular genetics of prion diseases in France. French Research Group on Epidemiology of Human Spongiform Encephalopathies. (7991124)
1994
31
The genetics and transgenetics of human prion disease. (8030945)
1994
32
Genetic Prion Diseases (20301407)
1993
33
Genetics of human prion disease. (7903647)
1993
34
Genetic and infectious prion diseases. (8105771)
1993

Genetic Variations for Genetic Prion Diseases

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Expression for genes affiliated with Genetic Prion Diseases

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Genetic Prion Diseases

Search GEO for disease gene expression data for Genetic Prion Diseases.

Pathways for genes affiliated with Genetic Prion Diseases

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Compounds for genes affiliated with Genetic Prion Diseases

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Sources:
44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Genetic Prion Diseases according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1guanidine hydrochloride449.9PRNP
2formate449.5PRNP, APOE
3guanidine44 11 2411.5PRNP, APOE
4biotin44 11 2411.3GSS, APOE
5sodium dodecylsulfate449.1PRNP, APOE
6aspartate448.6APOE, HLA-DQB1, PRNP
7glutamate448.1GSS, PRNP, HLA-DQB1, APOE

GO Terms for genes affiliated with Genetic Prion Diseases

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16Gene Ontology
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Biological processes related to Genetic Prion Diseases according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1agingGO:0075689.3GSS, APOE
2response to cadmium ionGO:0466869.2GSS, PRNP
3response to oxidative stressGO:0069799.0GSS, PRNP

Products for genes affiliated with Genetic Prion Diseases

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Genetic Prion Diseases

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet